NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|SLC25A15-related disorder
β
β
ββ2026β Residue 179
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2026β Residue 113
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2026β Residue 220
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|not provided
β
β
ββ2025β Residue 180
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 275
NM_014252.4(SLC25A15):c.408del (p.Met137fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 137
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)Pathogenic
not provided|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|Cardiac arrhythmia|Hereditary breast ovarian cancer syndrome
β
β
ββ2025β Residue 8
NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 40
NM_014252.4(SLC25A15):c.59del (p.Gly20fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 20
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 172
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)Likely pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 275
NM_014252.4(SLC25A15):c.523dup (p.Ser175fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 175
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 27
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|not provided|SLC25A15-related disorder
β
β
ββ2025β Residue 188
NM_014252.4(SLC25A15):c.622+1G>APathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 113
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 32
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 149
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 15
NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)Pathogenic
not provided|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β
β
ββ2025β Residue 33